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WFS1 rabbit pAb

CAT: 0855-ES11949-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0855-ES11949-01Size:50 µL
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Background
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Description
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009],
UniProt
O76024
Swiss Prot
O76024
Reactivity
Human; Mouse
Immunogen
Synthesized peptide derived from part region of human protein
Target
WFS1
Clonality
Polyclonal
Source
Rabbit
Applications
WB; ELISA
Concentration
1 mg/ml
Dilution
WB 1:500-2000 ELISA 1:5000-20000
Buffer
-20°C/1 year
Molecular Weight
97kD
Storage Conditions
-20°C/1 year
Observed Molecular Weight
97kD
Fragment
IgG
Subcellular Location
Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cytoplasmic vesicle, secretory vesicle . Co-localizes with ATP6V1A in the secretory granules in neuroblastoma cell lines. .
Gene ID (Human)
7466

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